The webinar featured an esteemed panel of presenters, including Donatella Milani,MD, Clinical Geneticist, Head of the Pediatric Genetics Clinic at the IRCCS Foundation, Ospedale Maggiore in Milan, Italy; Giulia Bruna Marchetti, MD, New specialist in Medical Genetics at the University of Milan, Italy; Giulia Pascolini, MD PhD, Clinical Geneticist, Head of the Genetic Consultancy Service of the Dermopathy Institute of the Immacolata (IDI-IRCCS) in Rome, Italy and Pierluigi Failla, PhD, Head of AI at FDNA.

Their combined expertise provided attendees with unparalleled insights into the intersection of AI, genetics, and clinical practice.

The webinar covered several significant topics, including:

1. The integration of Face2Gene in diagnosing Chromatinopathies and its application both during and after the diagnostic process as well as the utility of the tool in differential diagnoses and recognizing distinctive facial characteristics associated with rare genetic disorders
2. A deeper exploration of lesser-known malformation syndromes, such as trichothiodystrophies, and other rare clinical entities presenting with cutaneous phenotypes.
3. A Brief Explanation of the AI Technology Behind Face2Gene

Key Highlights

1. The Role of AI in Diagnosing Chromatinopathies

One of the most anticipated presentations revolved around the use of Face2Gene, a facial phenotyping tool powered by AI, in identifying Chromatinopathies, a group of rare genetic disorders caused by mutations in chromatin-remodeling genes. These often present with distinctive facial features that can guide clinicians toward a diagnosis. The presentation by Dr Giulia Marchetti focuses on differential diagnoses based on distinctive facial characteristics of this group of genetic disorders.

Further to the introduction by Dr Marchetti, Dr. Donatella Milani demonstrated how Face2Gene facilitates early and accurate diagnosis of chromatinopathies by analyzing facial photographs and identifying characteristic patterns linked to specific syndromes. Additionally, this session explored specific examples where distinctive facial characteristics, when analyzed by Face2Gene, led to the identification of syndromes that might otherwise have gone unrecognized.

• Confirm the genetic findings through phenotypic correlations.
• Develop tailored management plans by understanding the spectrum of phenotypic manifestations.

Beyond diagnosis, the tool also aids in post-diagnostic processes, helping clinicians, which was presented by Dr Giulia Marchetti. She showed the tool’s ability to compare facial features across a broad database of syndromes helps narrow down diagnostic possibilities, especially in complex cases. Dr. Marchetti highlighted:

• How the software enhances the accuracy of clinical evaluations.
• Its role in training clinicians to recognize subtle phenotypic differences.

2. Beyond Well-Known Malformation Syndromes: Trichothiodystrophies

This presentation delved into rare clinical entities with dermatological phenotypes, with a particular focus on trichothiodystrophies (TTDs). These ultra-rare conditions, characterized by brittle hair, photosensitivity, and other systemic manifestations, pose significant diagnostic challenges due to their rarity and phenotypic overlap with other disorders.

Dr. Giulia Pascolini underscored the importance of phenotyping tools in distinguishing TTDs from other syndromes. This discussion highlighted:

• The role of advanced imaging and genetic sequencing in complementing phenotyping.
• Case studies illustrating successful diagnoses of TTDs and related conditions.

3. The AI Technology Behind Face2Gene

The webinar concluded with a short technical presentation by Dr. Pierluigi Failla, who delved into the algorithms underpinning the tool, focusing on the capabilities of DeepGestalt^TM and GestaltMatcher^TM to enhance diagnostic accuracy and identify nuanced phenotypic patterns.

This event emphasized the transformative potential of combining traditional clinical expertise with innovative AI tools like Face2Gene in dermatology and genetic diagnostics. By enabling faster and more precise identification of rare diseases, these technologies are revolutionizing patient care, especially in fields where early intervention can significantly impact outcomes. 

The post Pioneering Rare Disease Diagnosis in Italy with AI-Powered Innovations, in Dermatology and Genetics appeared first on FDNA™.

The Origins of the Study 

The genesis of this research lies in the alarming increase in fentanyl use over the past six years. Fentanyl, often found in street drugs or prescribed medically, has been responsible for a surge in overdose deaths across the U.S. As a synthetic opioid, it is more potent than heroin and other natural opioids, making it highly dangerous, particularly when used illicitly.
Dr. Gripp first encountered a pattern in neonates presenting with physical abnormalities, including issues with growth, cleft palate, and distinctive facial features. These patients initially resembled cases of Smith-Lemli-Opitz Syndrome (SLOS), a metabolic disorder involving cholesterol biosynthesis. “The findings seemed similar, but genetic testing ruled out the presence of SLOS,” Dr. Gripp explained. This led her team to question whether the similarities could be tied to environmental factors, particularly opioid exposure.

Recognizing a New Syndrome 

Upon further investigation, Dr. Gripp and her team discovered that the affected patients had one thing in common—their mothers had opioid use disorders, with many using fentanyl during pregnancy. “We started to theorize that fentanyl, a synthetic opioid, could be acting as a teratogen—an agent causing congenital abnormalities—leading to this distinct set of features and developmental issues,” she said.
Unlike other opioids such as heroin, which have been used for decades without causing widespread birth defects, fentanyl seemed to have a much more severe impact on fetal development. Dr. Gripp’s team theorized that this synthetic opioid might be responsible for these more dramatic effects, an idea that was initially met with scepticism.

The Clinical Features 

To support their hypothesis, Dr. Gripp’s team documented the physical and developmental features of the children exposed to fentanyl in utero. These included cleft palate, abnormalities in hand and foot structure, and in males, genital abnormalities. A critical part of the study was the distinctive facial features shared by the affected children. “Facial development is a complex process influenced by genetic and environmental factors, and these children shared a pattern of facial abnormalities that we hadn’t seen before,” Dr. Gripp noted.
To objectively assess these facial features, the team employed the GestaltMatcher algorithm presented in the Face2Gene app, which compared the facial characteristics of affected children to controls, including patients with SLOS and Fetal Alcohol Syndrome (FAS). “We were able to show that the children with fentanyl exposure had more similarities to each other than to those in the control groups, providing a strong case for a novel syndrome,” Dr. Gripp shared.
Face2Gene, developed by FDNA, is a facial analysis ai tool that uses machine learning to compare the facial features of patients with known genetic syndromes to those of undiagnosed patients.

Facial photographs of Individuals 1-6 (A-F) as used in the GestaltMatcher analysis. Genetics in Medicine Open, 2023. 

Proving Fentanyl as the Cause 

The next step was to prove that fentanyl exposure was responsible for these abnormalities. In vitro studies, performed through a collaboration with the Korade lab in Nebraska, demonstrated fentanyl’s impact on cholesterol metabolism, mimicking but not exactly replicating the effects seen in SLOS. “This provided crucial evidence that fentanyl is capable of interfering with fetal development in a way that can lead to these physical and developmental problems,” Dr. Gripp stated.

Next Steps in Research 

While the research so far has been promising, Dr. Gripp emphasized that there is much more to be done. Her team is currently enrolling additional patients to further validate their findings. They are also exploring whether certain genetic predispositions—such as being a carrier of a variant affecting cholesterol metabolism—might increase the risk of having a child with Fetal Fentanyl Syndrome.
The research also raises questions about the spectrum of severity, with some children potentially presenting with milder symptoms, similar to what is seen in Fetal Alcohol Syndrome. “We have focused on the most severe cases to allow the delineation of this new syndrome, but it is likely that there are children with milder effects of fentanyl exposure that we have not yet identified,” Dr. Gripp explained.

Public Health Implications 

When asked about the broader implications of her research, Dr. Gripp emphasized the importance of addressing the opioid use epidemic. “This issue isn’t just about pregnancy—it’s about helping people overcome opioid use disorder, particularly fentanyl abuse,” she said. “By the time a pregnancy is recognized, it’s often too late to prevent fetal exposure, so the focus needs to be on preventing and treating opioid use disorders in general.”

Dr. Gripp’s research has opened a new frontier in understanding the dangers of fentanyl, especially for pregnant women and their unborn children. As more cases of Fetal Fentanyl Syndrome are reported and studied, the medical community will gain a clearer picture of how this potent synthetic opioid disrupts fetal development. This groundbreaking work not only highlights the need for better public health strategies to combat opioid addiction but also provides new insights into the risks that fentanyl poses to future generations.

For more information or to inquire about patient enrolment in ongoing studies, Dr. Gripp can be contacted directly via email. Her team continues to seek more cases and collaborations to further define and understand this emerging syndrome. 

The post Fetal Fentanyl Syndrome: Unveiling a New Syndrome Linked to Fentanyl Use During Pregnancy appeared first on FDNA™.

Dr. Gholson Lyon, a human geneticist at the Institute for Basic Research in Developmental Disabilities in Staten Island, NY, and the principal investigator of the study, explained that he wanted to try to prove that for this one rare disease (KBG Syndrome) the facial recognition analysis was able to help with making the diagnosis. 

“The study findings indicate that AI-assisted facial applications can play a role in reducing missed diagnoses, given the often-mild cognitive deficits and subtle dysmorphic features of KBG syndrome” says Dr. Lyon. The paper highlights that combining data from AI and patient registries can optimize diagnosis and help develop guidelines and treatment recommendations. “In my workflow, I can receive possible syndrome matches for a patients’ photo literally within seconds. An educated clinician can go through those syndromes and decide if any of them might be relevant”. 

The breakthrough study presents a protocol combining the use of videoconference and artificial intelligence (AI) in collecting and analyzing data leading to the diagnosis of KBG Syndrome. A single clinician interviewed 25 individuals from eight different countries, reviewed their medical records and had their photos analyzed by the FDNA’s algorithms, known as GestaltMatcher, DeepGestalt and PEDIA, FDNA algorithms. Find out more about FDNA’s technologies here.

Nearly 30-40% of children with disabilities in the U.S. have an underlying undiagnosed condition. With 95% of rare diseases lacking an FDA-approved treatment, there is an urgent medical need to achieve early diagnosis in children to help promote a better quality of life. FDNA is used by 70% of the world’s clinicians and researchers in human genetics, representing more than 2,000 clinical sites from over 130 countries around the world.

The post Study finds Face2Gene AI Tech can be used to help the diagnosis of KBG Syndrome, even in remote consultations appeared first on FDNA™.

People with KBG Syndrome — a rare genetic disorder that causes a spectrum of health, learning, and behavioral challenges — may submit photos at different ages through a confidential Face2Gene portal. Face2Gene then digitizes the information to build its database.

Participating clinicians can use Face2Gene by uploading a photo of their patient, and the Face2Gene application analyzes the photo against its database to point to potential diagnoses.

“Years ago, the KBG Foundation was one of the first organisations to work with FDNA to help train the Face2Gene software,” KBG Foundation CEO Annette Maughan said. “We are excited to have this opportunity re-open. When we can help people with KBG Syndrome get diagnosed earlier, it’s better for them to get the care they need.” There is no existing cure or single treatment for KBG Syndrome. Patients today have to address each symptom individually, such as seizures, gastrointestinal problems, developmental delays, behavioral challenges, and more.

“In addition, we hope a growing community of people with confirmed diagnoses will continue to draw the attention of researchers who will focus their efforts on developing treatments for KBG Syndrome as a whole,” Maughan said.

People with KBG Syndrome are encouraged to join the Foundation’s closed KBG Syndrome Family Group on Facebook, where they may find support and learn from others with the syndrome as well as request the link to participate in Face2Gene.

ABOUT FACE2GENE AND FDNA

Face2Gene is a suite of phenotyping applications that facilitates comprehensive and precise genetic evaluations. FDNA, the developer of Face2Gene, uses facial analysis, deep learning, and artificial intelligence to transform big data into actionable genomic insights to improve and accelerate diagnostics and therapeutics. With the world’s largest network of clinicians, labs, and researchers creating one of the fastest-growing and most comprehensive genomic databases, FDNA is changing the lives of rare disease patients. For more information, please visit www.fdna.com.

ABOUT KBG SYNDROME

KBG Syndrome is a rare genetic disorder caused by a mutation in the ANKRD11 gene. It is associated with a spectrum of challenges, including developmental delays, cognitive disabilities, behavioral disorders, autism, seizures, hearing loss, skeletal anomalies, heart complications, and gastrointestinal problems. Most people with KBG share at least some physical traits, including a triangular face, heavy eyebrows, curved fingers and spine, and short stature.

ABOUT THE KBG FOUNDATION

The KBG Foundation is a 501(c)(3) nonprofit organization, dedicated to providing support, assisting in research programs, and advocating to raise awareness about KBG Syndrome. To learn more, visit kbgfoundation.com. Follow @KBGFdn on Twitter.

The post KBG Foundation partnered with FDNA to help improve earlier diagnose of KBG Syndrome appeared first on FDNA™.

Each February, clinical, tech, and advocacy communities around the world pause to reflect on this fact and take time to recognize the strides we’ve made and what is to come in the journey towards ending the diagnostic odyssey.

This year the FDNA team “showed their stripes” at Rare Disease Day events from Boston to Israel. We’re honored to be able to work in a field that can make a real impact on people’s lives and sincerely thank our community of friends and colleagues that have dedicated their lives to benefit the lives of others. We’ve asked a few of them for their thoughts on what Rare Disease Day means to them, and their feedback was both insightful and inspiring:

[Rare Disease Day] is the day I get to celebrate the tremendous gift of being able to work with all the wonderful families in our care. Some have been afforded a diagnosis, others not, but all are equally impassioned to create awareness and enable us to provide the care they need. My mentor once told me, “When you hear hoofbeats, don’t think of Zebras, look for the Unicorns,” but in recent times, I listen for the beating wings of the Caladrius as more treatments become available for orphan disorders. I feel privileged to be a part of their journey and lives.

– Dr. Donald Basel, Medical Director, Genetics Center, Children’s Hospital of Wisconsin

To me, Rare Disease Day is a day where we recognize the determination of our patients and families to remain patient with those of us in the medical field. For many families, it takes years to reach a diagnosis, which can be understandably difficult and exhausting. But even after finding an answer, they are often forced to be the disease expert when interacting with the medical field, especially outside of the Geneticist’s office. This is an added burden that I imagine can be an overwhelming feeling. I am appreciative of these families for their willingness to support each other through phone calls, social media, and family conferences to better help all of our understanding of rare diseases.

– Dr. Dallas Reed, Tufts Medical Center

Rare disease day celebrates the journey of our patients and their families. It highlights their unique abilities and personalities. Rare disease day also shines a light on the need for improved understanding and learning in the medical community, and the need for new diagnostic and treatment options. It is my privilege and honor to work with these dedicated families on improving the life for individuals with rare diseases.

– Dr. Karen Gripp, Chief, Division of Medical Genetics, Department of Pediatrics, A.I. DuPont Hospital for Children

 .      

Thank you to the rare disease community for your work and continued support in advancing precision medicine to end the diagnostic odyssey and improve the lives of those who need it most.

The post A Rare Disease Day Reflection appeared first on FDNA™.

At the Genomics Collaborative, we know that designing the future of health takes more than just great technology and innovation, it takes people with passion and these moms have it in spades.

There is a strong community of healthcare advocates working on projects in diagnostic dilemmas, legislative issues, care and support resources, and awareness. The backbone of this community is led by parents on a mission, unrelenting in their fight to ensure that other children won’t have to struggle as theirs have had to.  

Today we’re recognizing just a few advocacy warriors in a collection of many who are making change for patients and families everywhere.

In part one of our two-part series, meet five “Moms on a Mission” for rare and undiagnosed diseases.

Name: Rene King

Rare Connection: In 2001, Rene King’s newborn daughter Rikki was diagnosed with Kabuki Syndrome, a rare and complex genetic disorder. In 2013, Rene & Rikki first launched Operation Kabuki Christmas (OKC). OKC quickly evolved into All Things Kabuki (ATK), a much broader awareness campaign with a focus on families affected by Kabuki.

Mission: Following her daughter’s diagnosis, Rene King observed a lack of resources and awareness surrounding Kabuki Syndrome. After connecting with other parents, she launched All Things Kabuki to raise awareness and provide support to other families navigating life with the rare condition. The organization hosts conferences, manages online support groups, shares educational resources in multiple languages, and is currently working with major research institutions and FDNA’s Genomics Collaborative to learn more about the condition.

Learn more about her work here: https://www.allthingskabuki.org/home and on Facebook.

Name: Neena Nizar

Learn more about her work here: https://www.thejansensfoundation.org & on twitter.

Name: Gina Szajnuk (Zanik)

Rare Connection: An undiagnosed patient and mother of three undiagnosed children, Szajnuk is the Co-Founder and Executive Director of RUN (Rare and Undiagnosed Network)

Mission: Szajnuk broke through impossible barriers to secure multiple rounds of genetic sequencing for her entire family to try to solve the mystery. When they failed to pinpoint a gene, Szajnuk had to brainstorm ways for her family to live with this “new normal” while still actively pursuing more testing. She founded RUN (Rare and Undiagnosed Network) a non-profit that provides resources for undiagnosed patients and seeks to raise awareness about the many medical mysteries out there that remain unsolved.

Learn more about her work here: https://rareundiagnosed.org and on Twitter.

Name: Eden Lord

Rare Connection: Parent to a rare and chronically ill daughter, Lord has been involved in numerous advocacy efforts in resources, research, legislation, and community events.

Mission: Since her daughter’s rare disease diagnosis in 2009, Eden Lord has been an active advocate in rare disease awareness and legislation. She has lobbied in her district and in DC for RDLA lobby days, served as the Kansas state chair for the CARES foundation, attended the Global Genes conference, and successfully lobbied for the administration of patient-carried meds in Kansas and Missouri. She has organized rare disease week awareness events in Topeka with NORD, and she is the Executive Director for the Cambria Lord Foundation. She is the Co-Founder of My City Med, along with her husband Jeff, and the creator of the first entirely virtual rare disease conference, The Rare Fair.

Learn more about her work here:  www.therarefair.com http://cambrialordfoundation.org and on twitter.

Name: Carri Levy

Rare Connection: A patient and parent to a rare and undiagnosed daughter, Levy created the show Behind the Mystery which shines a light on rare and genetic conditions through educational programming on Lifetime TV.

Mission: Levy hopes to bring mainstream attention to rare conditions in an effort to improve awareness among undiagnosed patients and enlighten the communities surrounding diagnosed patients on what a diagnosis, treatment, and daily life look like for these patients. She hosts the Rare Talk discussion group on LinkedIn and was named one of Global Genes 2013 Rare Champions of Hope.

Learn more about her work here: https://thebalancingact.com/category/behind-the-mystery/ and on LinkedIn.

Stay tuned for part II coming soon!

The post Moms on a Mission for Rare Disease Advocacy appeared first on FDNA™.

At FDNA, we recognize that one day is simply not enough time to raise awareness for the plight of rare and undiagnosed patients. Their diseases impact their lives and the lives of their families every day. Their symptoms, their struggles, their fight for more awareness–both socially and in the medical community–and their dedication to research are ongoing.

As long as these patients and their communities continue to face these challenges, we will stand beside them in our efforts to bring the height of technology and the latest in research to the patients who need them most urgently.

With this mission in mind, it seemed only appropriate to choose today to launch the Genomics Collaborative. Together with patients, advocacy organizations, labs, life science companies, doctors, researchers, and public health officials, we will work collaboratively to change the diagnostic odyssey by arming patients and their medical teams with the tools they need to reach a prompt and accurate diagnosis.

In the late 1940’s Dr. Theodore Woodward, a professor at the University of Maryland School of Medicine, instructed his medical interns, “When you hear hoof beats, think of horses, not zebras”.

For the 30 million people in the United States who are currently living with a rare disease, we see your stripes and will continue to dedicate our time and resources to helping others see them too.

Here’s one way we’re partnering with technology to help change lives:

Morgan’s Story: For millions of children around the world, small errors in their DNA deprive them of the freedom to live full, healthy, and happy lives. In most cases, trying to identify and understand these errors is a journey, in fact, it’s an odyssey impacting these children and their families. Sharing data and working together is critical.

Just How Rare are Rare Diseases?

Check out these rare disease statistics from Global Genes.

• There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day
• 30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the U.S. population
• Similar to the United States, Europe has approximately 30 million people living with rare diseases. It is estimated that 350 million people worldwide suffer from rare diseases
• If all of the people with rare diseases lived in one country,  it would be the world’s 3rd most populous country
• In the United States, a condition is considered “rare” it affects fewer than 200,000 persons combined in a particular rare disease group. International definitions on rare diseases vary. For example in the UK, a disease is considered rare if it affects fewer than 50,000 citizens per disease
• 80% of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear
• Approximately 50% of the people affected by rare diseases are children
• 30% of children with rare diseases will not live to see their 5th birthday
• Rare diseases are responsible for 35% of deaths in the first year of life
• The prevalence distribution of rare diseases is skewed – 80% of all rare disease patients are affected by approximately 350 rare diseases
• According to the Kakkis EveryLife Foundation, 95% of rare diseases have not one single FDA-approved drug treatment
• During the first 25 years of the Orphan Drug Act(passed in 1983), only 326 new drugs were approved by the FDA and brought to market for all rare disease patients combined
• According to the National Institutes of Health Office of Rare Disease Research, approximately 6% of the inquiries made to the Genetic and Rare Disease Information Center(GARD) are in reference to an undiagnosed disease
• Approximately 50% of rare diseases do not have a disease-specific foundation supporting or researching their rare disease

Looking to Support a Rare Organization?

Yellow Brick Road Project

The Yellow Brick Road Project is a quest to cure HNRNPH2 mutations.

All Things Kabuki

All Things Kabuki Inc. is an organization that serves the Kabuki patient community and their families.

Pitt Hopkins Research Foundation

The Pitt Hopkins Research Foundation (PHRF) seeks to support research dedicated to finding a treatment, and an eventual cure of Pitt Hopkins syndrome and other similar disorders.

NGLY1 Foundation

NGLY1.org eliminates the challenges of N-glycanase deficiency through research, awareness, and support.

The Focus Foundation

The Focus Foundation is dedicated to helping children and families affected by X & Y Variations, Dyslexia, and/or Developmental Dyspraxia.

KBG Foundation

The Jansen’s Foundation

The mission of the Jansen’s Foundation is to bring awareness and support research in hopes of bringing about a cure to this debilitating skeletal condition.

Cure Sanfilippo Foundation

This foundation exists to advocate for and fund research directed toward a cure and treatment options for patients with Sanfilippo Syndrome.

Bridge the Gap: Syngap

Bridge the Gap seeks to serve, educate, and fund research for families coping with the effects of SYNGAP mutations.

You can find more organizations to donate to and continue learning more about rare diseases by visiting the following sites:

Global Genes

Rare Disease Report

Rare Revolution Magazine

NORD

The post FDNA Recognizes World Rare Disease Day 2018 appeared first on FDNA™.

As part of FDNA’s Year of Discovery, FDNA collaborated with the National Foundation for Ectodermal Dysplasias, sponsored by GeneDx, to research and promote awareness of Skin Disorders throughout the month of December.

About Skin Disorders

Abnormalities of the hair, skin, sweat glands, nails, and teeth are frequently associated with various genetic diseases. The list of rare skin disorders is lengthy, with a wide range of severity and symptoms. Often, the features associated with these conditions are present at birth or develop within the first few years of life, though detection during pregnancy is also possible. Some of the associated features of many skin disorders include:

• Skin lesions
• Abnormal or missing nails
• Sparse hair and eyebrows
• Absent teeth or delayed dentition, and more.

Ectodermal Dysplasias

Nearly 200 types of syndromes are classified under a category of skin disorders known as “Ectodermal Dysplasias,” identified by the specific combination of symptoms that are present in the given individual. One in every 10,000 children per year are born with a form of Ectodermal Dysplasia, such as Coffin-Siris syndrome, several forms of Ehlers-Danlos syndrome, and Trichorhinophalangeal syndromes. More information about these conditions can be found at the National Foundation for Ectodermal Dysplasias.

Expanding Resources through Technology

Typically, the process of diagnosing and treating rare skin disorders involves consulting various clinical specialists. With advancements in technology, clinicians are able to easily access and utilize improved resources, which can aid in the tests and evaluations used to identify and gain a greater understanding of different syndromes. Thanks to the collection of many facial images of patients diagnosed with these rare diseases, FDNA’s platform, Face2Gene Suite, can learn valuable information on their clinical presentation. In result, we have been able to create and validate a model for the facial patterns that are common among these individuals. Below you will find some of the validated facial masks of skin disorders generated by Face2Gene.

The above, along with myriad other syndromes, are available
for patient evaluations via Face2Gene CLINIC.

The post Skin Disorders Discoveries in the Year of Discovery appeared first on FDNA™.

FDNA focused on skin disorders in December for the Year of Discovery. We are uniting healthcare, advocacy, and technology for rare disease advancements. Every time a case is analyzed by Face2Gene, the de-identified case data can train the system to recognize new phenotypes, facial characteristics and genes. This information will improve our understanding of rare diseases and directly impact the lives of patients and families for years to come. As part of this initiative, the National Foundation for Ectodermal Dysplasias (NFED) will receive a charitable donation sponsored by GeneDx.

Dexter’s Journey

Jamie Critchell had a feeling that her son was following in her footsteps when he only developed 18 of his 20 baby teeth.  A trip to his pediatric dentist led the family on a journey to a diagnosis of one of the rare types of ectodermal dysplasia called odontoonychodermal dysplasia (OODD), which is an autosomal recessive condition. This means each parent carries a gene for the condition.

The diagnosis would not have happened if this Canadian mom had listened to a care provider who told her that “it wasn’t that bad” and that they didn’t need genetic testing. Jamie trusted her motherly instinct and knew that it could offer understanding and information for her family.

“All moms say that their kids are the sweetest, the most whatever, but in this case, I do truly mean that Dexter is a sweet, caring boy,” said Jamie in an interview with the National Foundation for Ectodermal Dysplasia. “He wants everyone around him to be happy and will do what he can and give of himself to make it happen.”

For the little boy that loved to play with LEGOs and outside in the mud, his family did not feel concern for his health until they realized he was missing two baby teeth. After an initial exam, the family was only left with more questions.

“By asking this question, we also got the answer which we did not want to hear…Dex is missing 14 adult teeth, six of which are front and center with four more visible with a smile. He has a couple of slightly more than normal pointed teeth. So there are some serious concerns not only cosmetically, but also with regards to bite, speech, breathing, and posture. The list really goes on.”

The family soon began to notice even more symptoms including soft, thin, and splitting nails, thickening skin on the bottom of his feet and then there was the fact that Dex wasn’t sweating.

“I went to my family doctor with hopes of getting a genetic test. During this time, I started reading about this a little more and noticed that some of my family members have little parts of this (condition) present in them. This only strengthened my resolve to get him tested.”

The process wasn’t straightforward by any means, and Dexter’s parents faced multiple roadblocks trying to confirm a diagnosis.

“Due to our medical system (in Canada), our family doctor was not able to order the tests and we had to be referred to a pediatric specialist. Once we could get in to see them, then the request was made to our local Children’s hospital. After several months, we got the appointment to meet with the genetics department and interview the doctors.”

“After the interview, we then had Dex’s blood taken. We had to wait to see if the hospital board would approve the funding for the test. A further few more months, we finally got the letter with the diagnosis. Dex was five years old. We knew it would not change anything in our lives but it was such a good feeling to know we have facts and can start to piece together a game plan for his life to make it as ‘normal’ as any other child.”

The family was referred to NFED by their pediatric doctor. They are looking forward to using their resources to find the right clinicians to help Dexter throughout his medical journey—and to connect with other families going through similar experiences.

“It was a long road with some telling us this was not important…it really was and is. It is stunning just how much knowledge is power.”

Read the full original story on the NFED website

What are Ectodermal Dysplasias

The National Foundation for Ectodermal Dysplasias (NFED) is the worldwide expert on ectodermal dysplasias and the only advocacy organization in the United States dedicated to those living with these disorders.

Ectodermal dysplasias are a diverse group of genetic disorders that involve defects of the hair, nails, teeth, skin, and glands. Other parts of the body, such as the eyes or throat, may be affected as well. The combination of physical features a person has and the way in which it is inherited determines if it is an ectodermal dysplasia. For example, hypohidrotic ectodermal dysplasia affects the hair, teeth, and sweat glands while Clouston syndrome affects the hair and nails.

More than 180 different types of ectodermal dysplasias exist. Yet, most types share some common symptoms, ranging from mild to severe. The early diagnosis of a specific type will help identify which combination of symptoms the person has or will have.

This depends on the specific type of ectodermal dysplasia a person has. Even within each type, people can be affected differently depending on the combination of symptoms they have. Any one of the abnormalities may be mild or severe. The physical appearance, then, varies from person to person including within a family and from family to family.

The ectodermal dysplasias are complex. NFED is working with the scientific and medical community to create a new classification system to better define what is and what isn’t an ectodermal dysplasia. This system will include symptoms, genomic information, and biomedical information.

How NFED is Helping Patients

NFED works to connect patients with the best of care through its network of dental treatment centers which feature the most experienced partners at universities and private practices who treat ectodermal dysplasia at affordable costs. They also offer financial assistance to aid with dentures for children, wigs, air conditioners, and cooling vests to help offset some of the more frustrating symptoms of the disease.

NFED offers a program called “First Connect” which gives one-on-one support to help patients learn more about the community of support available to them after a new diagnosis. Their Family Liaison Program can assist the whole family in coping with a parent or child’s diagnosis by listening, sharing experiences, and discussing available resources.

Families have even more opportunities to connect through their annual three-day conference where patients can meet and learn from expert doctors and dentists. Kids and teens spend these three days at “Kay’s Kids Camp” which offers age-appropriate crafts, games, entertainment, and more. To make sure that all families have the opportunity for support—the organization even offers the “Ben Meier’s Golden Ticket Fund” which supplies financial assistance to patients who wish to attend the event.

NFED is committed to the pursuit of information and developing research on treatments for the disease. Through the Ectodermal Dysplasias International Registry patients are asked to share personal information and symptoms for further exploration.

To learn more about how NFED is helping patients and their families across the US please visit www.nfed.org

About GeneDx

GeneDx is a world leader in genomics with acknowledged expertise in rare and ultra-rare genetic disorders, as well as one of the broadest menus of sequencing services available among commercial laboratories. Providing testing to patients and their families in more than 55 countries, GeneDx is a business unit of BioReference Laboratories, a wholly-owned subsidiary of OPKO Health, Inc. To learn more, please visit www.genedx.com

Face2Gene CLINIC is a free, HIPAA-compliant search & reference tool for healthcare professionals. Face2Gene is provided for informational purposes and not intended to replace the clinician’s judgment or experience, nor should it be used to diagnose or treat medical conditions.

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NGP detects physiological patterns (facial features, imaging, biometrics, etc.) to reveal disease-causing genetic variations underlying a patient’s symptoms. Understanding a person’s genetics is not enough in most cases; the missing link is NGP.

“In reality, the most power happens when you combine these

two pieces [genome and phenotype] together.”

Coupling sequencing with NGP is a major technology and healthcare breakthrough: it means that most of the 75% of people for whom genetic testing doesn’t work are no longer left at a medical dead end. NGP is taking off in world of genetics, with 70% of clinical geneticists globally using FDNA’s NGP platform, Face2Gene, and most major genetic testing labs integrating it into their day-to-day case analysis systems in the past year.

“We can start to use artificial intelligence and deep learning to leverage

all of this really well structured information […] to improve patient outcomes, 

diagnosis, and to reduce the cost of testing and improve the value.”

Listen in as Kyle and Dekel discuss the benefits, hurdles, and future of phenotyping technologies.

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